Innovation and Discovery

Gene Therapy Trial Improves Walking Performance for Becker Muscular Dystrophy
Becker muscular dystrophy (BMD) is an inherited, degenerative neuromuscular disorder resulting from defects of muscle caused by a DMD mutation, and glucocorticoids, which are the only beneficial drug treatment for Duchenne muscular therapy, have not proven successful in clinical trials for patients with BMD. But now, gene therapy shows promise as a strategy to increase muscle size and strength for patients with BMD, as demonstrated in a published study of the first human clinical trial in the journal Molecular Therapy, led by Jerry Mendell, MD, director of the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital, and Brian Kaspar, PhD, principal investigator in the Center.

Colorectal Cancer Screening for Children with Lynch Syndrome
Colorectal and related cancers can develop in children with Lynch syndrome, a hereditary condition that increases the risk of life-threatening malignancies, which can develop as early as the mid-teens. Early diagnosis is crucial since fewer than one in every four children diagnosed with colorectal cancer survive. Steve Erdman, MD, pediatric gastroenterologist at Nationwide Children’s Hospital, is the author of a recent review on pediatric Lynch syndrome published in the Journal of Pediatric Gastroenterology and Nutrition, and underscores the importance of pediatric subspecialists beginning surveillance and screening once families at risk for Lynch syndrome have been identified.

Infection Susceptibility Depends on Kidney pH Balance and Key Enzyme
According to a study performed by clinician-scientists at Nationwide Children’s Hospital and collaborating institutions, carbonic anhydrase 2 (Car2), an enzyme essential to balancing kidney pH balance, is part of the innate defense of the kidney, which adds to evidence indicating that acid-base balance and immune function are linked. Andrew Schwaderer, MD, research director of Nephrology at Nationwide Children’s and senior author of the study, which was published in the American Journal of Physiology: Renal Physiology, explains that the findings provide the first evidence of Car2 and intercalated cells’ involvement in promoting renal bacterial clearance in vivo. Further elucidation of the role of related enzymes and proteins may have direct clinical care implications for patients with pyelonephritis.